Please read carefully the following case study and provide asuitable answer to its questions.
A male baby born after a normal pregnancy appeared to be healthyuntil after the third day after his birth. He became lethargic,hypnotic (low muscle tone), his breathing was shallow and lead toapnea. First, he was hooked up to a mechanical respirator. A bloodsample was taken to the lab and found that his plasma ammonia levelwas 474 µmol/L.
As a healthcare provider, you have put the baby under peritonealdialysis until results of plasma amino acid levels and urineorganic acid tests are ordered. The baby went into a deep coma.
The lab tests revealed the following;
Plasma ammonia | 474 µmol/L |
Plasma glutamine | 1560 µmol/L (normal value 350 – 700 µmol/L) |
Plasma arginine | Undetectable |
Plasma N-acetylglutamine (NAG) | High |
Plasma PH level | 7.9 |
Based on the above lab result;
- What is your diagnosis of this case? Provide a suitable reasonto your answer along with the specific reaction(equation) of urea cycle on which you arereferring to on your answer.
- Why the patient has high blood level of glutamine?
- Why the patient has high plasma level of NAG?
- How can you treat this condition and save the baby from alife-threatening coma?
- What type of condition is this? (Congenital or Acquired)
